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Aliases for COMP Gene

Aliases for COMP Gene

  • Cartilage Oligomeric Matrix Protein 2 3
  • Thrombospondin-5 2 3 4
  • Cartilage Oligomeric Matrix Protein (Pseudoachondroplasia, Epiphyseal Dysplasia 1, Multiple) 2 3
  • PSACH 3 6
  • EDM1 3 6
  • TSP5 3 4
  • MED 3 6
  • Cartilage Oligomeric Matrix Protein(Pseudoachondroplasia, Epiphyseal Dysplasia 1, Multiple) 3
  • Pseudoachondroplasia (Epiphyseal Dysplasia 1, Multiple) 3
  • THBS5 3
  • EPD1 3

External Ids for COMP Gene

Previous Symbols for COMP Gene

  • PSACH
  • EDM1
  • EPD1

Summaries for COMP Gene

Entrez Gene Summary for COMP Gene

  • The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Mutations can cause the osteochondrodysplasias pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2008]

GeneCards Summary for COMP Gene

COMP (Cartilage Oligomeric Matrix Protein) is a Protein Coding gene. Diseases associated with COMP include hemophilic arthropathy and relapsing polychondritis. Among its related pathways are PI3K-Akt signaling pathway and Focal adhesion. GO annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is THBS4.

UniProtKB/Swiss-Prot for COMP Gene

  • May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity).

Gene Wiki entry for COMP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COMP Gene

Genomics for COMP Gene

Genomic Location for COMP Gene

Start:
18,782,773 bp from pter
End:
18,791,314 bp from pter
Size:
8,542 bases
Orientation:
Minus strand

Genomic View for COMP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COMP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COMP Gene

Regulatory Elements for COMP Gene

Transcription factor binding sites by QIAGEN in the COMP gene promoter:

Proteins for COMP Gene

  • Protein details for COMP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49747-COMP_HUMAN
    Recommended name:
    Cartilage oligomeric matrix protein
    Protein Accession:
    P49747
    Secondary Accessions:
    • B4DKJ3
    • O14592
    • Q16388
    • Q16389
    • Q2NL86
    • Q8N4T2

    Protein attributes for COMP Gene

    Size:
    757 amino acids
    Molecular mass:
    82860 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds 11-14 calcium ions per subunit.;
    Quaternary structure:
    • Pentamer; disulfide-linked. Exists in a more compact conformation in the presence of calcium and shows a more extended conformation in the absence of calcium. Interacts with ITGB3, ITGA5 and FN1. Binding to FN1 requires the presence of divalent cations (Ca(2+), Mg(2+) or Mn(2+)). The greatest amount of binding is seen in the presence of Mn(2+). Interacts with MATN1, MATN3, MATN4 and ACAN. Binds heparin, heparan sulfate and chondroitin sulfate. EDTA dimishes significantly its binding to ACAN and abolishes its binding to MATN3, MATN4 and chondroitin sulfate. Interacts with collagen I, II and IX, and interaction with these collagens is dependent on the presence of zinc ions. Interacts with ADAMTS12. Interacts with ITGA7 (By similarity).
    SequenceCaution:
    • Sequence=AAB86501.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COMP Gene

    Alternative splice isoforms for COMP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COMP Gene

Proteomics data for COMP Gene at MOPED

Post-translational modifications for COMP Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn121 and Asn742

Other Protein References for COMP Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for COMP Gene

Domains for COMP Gene

UniProtKB/Swiss-Prot:

COMP_HUMAN
Domain:
  • The cell attachment motif mediates the attachment to chondrocytes. It mediates the induction of both the IAP family of survival proteins and the antiapoptotic response.:
    • P49747
  • The TSP C-terminal domain mediates interaction with FN1 and ACAN.:
    • P49747
  • Each of the eight TSP type-3 repeats binds two calcium ions. The TSP C-terminal domain binds three calcium ions.:
    • P49747
  • Contains 4 EGF-like domains.:
    • P49747
  • Contains 1 TSP C-terminal (TSPC) domain.:
    • P49747
Family:
  • Belongs to the thrombospondin family.:
    • P49747
Similarity:
  • Contains 8 TSP type-3 repeats.:
    • P49747
genes like me logo Genes that share domains with COMP: view

No data available for Gene Families for COMP Gene

Function for COMP Gene

Molecular function for COMP Gene

GENATLAS Biochemistry: cartilage oligomeric matrix glycoprotein (524kDa),cell adhesion molecule,thrombospondin family
UniProtKB/Swiss-Prot Function: May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity).

Gene Ontology (GO) - Molecular Function for COMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 18485748
GO:0005201 extracellular matrix structural constituent IEA --
GO:0005509 calcium ion binding IDA 10852928
GO:0005515 protein binding IPI 12225811
GO:0005518 collagen binding IDA 11084047
genes like me logo Genes that share ontologies with COMP: view
genes like me logo Genes that share phenotypes with COMP: view

Animal Models for COMP Gene

MGI Knock Outs for COMP:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for COMP Gene

Localization for COMP Gene

Subcellular locations from UniProtKB/Swiss-Prot for COMP Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COMP Gene COMPARTMENTS Subcellular localization image for COMP gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for COMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IDA 20551380
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with COMP: view

Pathways for COMP Gene

genes like me logo Genes that share pathways with COMP: view

Pathways by source for COMP Gene

1 R&D Systems pathway for COMP Gene
1 BioSystems pathway for COMP Gene

Gene Ontology (GO) - Biological Process for COMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 7670472
GO:0003417 growth plate cartilage development IEA --
GO:0006915 apoptotic process IEA --
GO:0007155 cell adhesion IEA --
GO:0009887 organ morphogenesis TAS 7713493
genes like me logo Genes that share ontologies with COMP: view

Compounds for COMP Gene

(1) Drugbank Compounds for COMP Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Calcium
target

(36) Novoseek inferred chemical compound relationships for COMP Gene

Compound -log(P) Hits PubMed IDs
keratan sulfate 64.4 13
alginate 49.2 1
glycosaminoglycan 45.3 3
hyaluronic acid 43.2 11
pentosidine 40.8 4
genes like me logo Genes that share compounds with COMP: view

Transcripts for COMP Gene

Unigene Clusters for COMP Gene

Cartilage oligomeric matrix protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COMP Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: -
SP2: -
SP3: - -
SP4: - - -
SP5:

Relevant External Links for COMP Gene

GeneLoc Exon Structure for
COMP
ECgene alternative splicing isoforms for
COMP

Expression for COMP Gene

mRNA expression in normal human tissues for COMP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COMP Gene

This gene is overexpressed in Artery - Tibial (17.8), Artery - Aorta (4.9), and Adipose - Subcutaneous (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COMP Gene

SOURCE GeneReport for Unigene cluster for COMP Gene Hs.1584

mRNA Expression by UniProt/SwissProt for COMP Gene

P49747-COMP_HUMAN
Tissue specificity: Abundantly expressed in the chondrocyte extracellular matrix, and is also found in bone, tendon, ligament and synovium and blood vessels. Increased amounts are produced during late stages of osteoarthritis in the area adjacent to the main defect.
genes like me logo Genes that share expressions with COMP: view

Orthologs for COMP Gene

This gene was present in the common ancestor of animals.

Orthologs for COMP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COMP 36
  • 99.6 (n)
  • 99.47 (a)
COMP 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COMP 36
  • 87.99 (n)
  • 92.01 (a)
COMP 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COMP 36
  • 88.49 (n)
  • 93.25 (a)
COMP 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Comp 36
  • 84.53 (n)
  • 91.22 (a)
Comp 16
Comp 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COMP 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COMP 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Comp 36
  • 84.04 (n)
  • 91.22 (a)
chicken
(Gallus gallus)
Aves COMP 36
  • 70.35 (n)
  • 76.16 (a)
COMP 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COMP 37
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia comp 36
  • 65.65 (n)
  • 72.54 (a)
zebrafish
(Danio rerio)
Actinopterygii COMP 37
  • 68 (a)
OneToOne
im:7154332 36
  • 66.81 (n)
  • 70.78 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002157 36
  • 62.35 (n)
  • 57.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta Tsp 36
  • 56.76 (n)
  • 52.02 (a)
Tsp 37
  • 35 (a)
OneToMany
Tsp 38
  • 50 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 56 (a)
OneToMany
Species with no ortholog for COMP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COMP Gene

ENSEMBL:
Gene Tree for COMP (if available)
TreeFam:
Gene Tree for COMP (if available)

Paralogs for COMP Gene

Paralogs for COMP Gene

Selected SIMAP similar genes for COMP Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with COMP: view

Variants for COMP Gene

Sequence variations from dbSNP and Humsavar for COMP Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs730079 -- 18,792,686(+) TCCTG(C/G)AATCA upstream-variant-2KB
rs739638 -- 18,792,999(+) ACACA(A/T)TAAtt upstream-variant-2KB
rs1989888 -- 18,791,664(+) AAGCC(C/T)GCACC upstream-variant-2KB
rs2079010 -- 18,792,969(+) tgtga(A/C)gcttg upstream-variant-2KB
rs3179763 - 18,786,645(-) GGATC(C/T)GCAAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COMP Gene

Variant ID Type Subtype PubMed ID
nsv911282 CNV Loss 21882294
dgv3786n71 CNV Loss 21882294
nsv911295 CNV Loss 21882294
nsv911296 CNV Loss 21882294
nsv833777 CNV Loss 17160897

Relevant External Links for COMP Gene

HapMap Linkage Disequilibrium report
COMP
Human Gene Mutation Database (HGMD)
COMP

Disorders for COMP Gene

(2) OMIM Diseases for COMP Gene (600310)

UniProtKB/Swiss-Prot

COMP_HUMAN
  • Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. {ECO:0000269 PubMed:11565064, ECO:0000269 PubMed:21922596, ECO:0000269 PubMed:7670472, ECO:0000269 PubMed:9021009, ECO:0000269 PubMed:9184241, ECO:0000269 PubMed:9452026, ECO:0000269 PubMed:9463320, ECO:0000269 PubMed:9921895}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pseudoachondroplasia (PSACH) [MIM:177170]: A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease. {ECO:0000269 PubMed:11746044, ECO:0000269 PubMed:11746045, ECO:0000269 PubMed:21922596, ECO:0000269 PubMed:7670471, ECO:0000269 PubMed:7670472, ECO:0000269 PubMed:9184241, ECO:0000269 PubMed:9452026, ECO:0000269 PubMed:9452063, ECO:0000269 PubMed:9463320}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(44) Novoseek inferred disease relationships for COMP Gene

Disease -log(P) Hits PubMed IDs
psach 98.3 169
multiple epiphyseal dysplasia 97.6 57
skeletal dysplasia 85.4 24
osteoarthritis 83.1 58
osteochondrodysplasias 80.4 3

Relevant External Links for COMP

GeneTests
COMP
GeneReviews
COMP
Genetic Association Database (GAD)
COMP
Human Genome Epidemiology (HuGE) Navigator
COMP
genes like me logo Genes that share disorders with COMP: view

Publications for COMP Gene

  1. Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. (PMID: 7670471) Hecht J.T. … Lawler J. (Nat. Genet. 1995) 3 4 23
  2. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. (PMID: 7670472) Briggs M.D. … Cohn D.H. (Nat. Genet. 1995) 3 4 23
  3. Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family. (PMID: 9021009) Ballo R. … Ramesar R.S. (Am. J. Med. Genet. 1997) 3 4 23
  4. Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein. (PMID: 9184241) Susic S. … Cole W.G. (Clin. Genet. 1997) 3 4 23
  5. Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. (PMID: 9463320) Briggs M.D. … Cohn D.H. (Am. J. Hum. Genet. 1998) 3 4 23

Products for COMP Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate COMP
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for COMP
  • Block miRNA regulation of COMP using miScript Target Protectors
  • Addgene plasmids for COMP

Sources for COMP Gene

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